FRAS1 explained

Extracellular matrix protein FRAS1 is a protein that in humans is encoded by the FRAS1 (Fraser syndrome 1) gene.^{[1] [2]} This gene encodes an extracellular matrix protein that appears to function in the regulation of epidermal-basement membrane adhesion and organogenesis during development.

Metastatic prostate cancer

A single nucleotide switch (polymorphism) in FRAS1 promoter region is associated with metastatic Prostate cancer. The promoter region is directly related to the NFkB pathway and has been shown to be associated with lethal prostate cancer. ^[3]

Fras1 related extracellular matrix (FREM1) directly relates to congenital diaphragmatic hernia in developing fetuses. Decreased expression of FREM1 may be linked with disruptions in the growth of diaphragm cells. Both FRAS1 and FREM1 are among the proteins that are primarily interacting during embryonic development. It is shown that a decrease in these two proteins lead to an increase of congenital diaphragmatic hernia in both humans and mice.^[4]

Clinical significance

Mutations in this gene have been observed to cause fraser syndrome.^[5]

See also

• Fraser syndrome

Further reading

• Short K, Wiradjaja F, Smyth I . Let's stick together: the role of the Fras1 and Frem proteins in epidermal adhesion . IUBMB Life . 59 . 7 . 427–435 . July 2007 . 17654118 . 10.1080/15216540701510581 . 6690146 .
• Long J, Wei Z, Feng W, Yu C, Zhao YX, Zhang M . Supramodular nature of GRIP1 revealed by the structure of its PDZ12 tandem in complex with the carboxyl tail of Fras1 . Journal of Molecular Biology . 375 . 5 . 1457–1468 . February 2008 . 18155042 . 10.1016/j.jmb.2007.11.088 . 10397/14647 .
• Jugessur A, Shi M, Gjessing HK, Lie RT, Wilcox AJ, Weinberg CR, Christensen K, Boyles AL, Daack-Hirsch S, Nguyen TT, Christiansen L, Lidral AC, Murray JC . 6 . Clarice Weinberg . Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia . PLOS ONE . 5 . 7 . e11493 . July 2010 . 20634891 . 2901336 . 10.1371/journal.pone.0011493 . free . 2010PLoSO...511493J .
• Medland SE, Nyholt DR, Painter JN, McEvoy BP, McRae AF, Zhu G, Gordon SD, Ferreira MA, Wright MJ, Henders AK, Campbell MJ, Duffy DL, Hansell NK, Macgregor S, Slutske WS, Heath AC, Montgomery GW, Martin NG . 6 . Common variants in the trichohyalin gene are associated with straight hair in Europeans . American Journal of Human Genetics . 85 . 5 . 750–755 . November 2009 . 19896111 . 2775823 . 10.1016/j.ajhg.2009.10.009 .
• Vrontou S, Petrou P, Meyer BI, Galanopoulos VK, Imai K, Yanagi M, Chowdhury K, Scambler PJ, Chalepakis G . 6 . Fras1 deficiency results in cryptophthalmos, renal agenesis and blebbed phenotype in mice . Nature Genetics . 34 . 2 . 209–214 . June 2003 . 12766770 . 10.1038/ng1168 . free . 23226763 . 11858/00-001M-0000-0012-F0CE-9 .
• Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, Yamamoto J, Sekine M, Tsuritani K, Wakaguri H, Ishii S, Sugiyama T, Saito K, Isono Y, Irie R, Kushida N, Yoneyama T, Otsuka R, Kanda K, Yokoi T, Kondo H, Wagatsuma M, Murakawa K, Ishida S, Ishibashi T, Takahashi-Fujii A, Tanase T, Nagai K, Kikuchi H, Nakai K, Isogai T, Sugano S . 6 . Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes . Genome Research . 16 . 1 . 55–65 . January 2006 . 16344560 . 1356129 . 10.1101/gr.4039406 .
• Docherty SJ, Kovas Y, Petrill SA, Plomin R . Generalist genes analysis of DNA markers associated with mathematical ability and disability reveals shared influence across ages and abilities . BMC Genetics . 11 . 61 . July 2010 . 20602751 . 2909150 . 10.1186/1471-2156-11-61 . free .
• Gattuso J, Patton MA, Baraitser M . The clinical spectrum of the Fraser syndrome: report of three new cases and review . Journal of Medical Genetics . 24 . 9 . 549–555 . September 1987 . 3118036 . 1050267 . 10.1136/jmg.24.9.549 .
• van Haelst MM, Maiburg M, Baujat G, Jadeja S, Monti E, Bland E, Pearce K, Hennekam RC, Scambler PJ . 6 . Molecular study of 33 families with Fraser syndrome new data and mutation review . American Journal of Medical Genetics. Part A . 146A . 17 . 2252–2257 . September 2008 . 18671281 . 10.1002/ajmg.a.32440 . 44521706 .
• Nagase T, Kikuno R, Ishikawa K, Hirosawa M, Ohara O . Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro . DNA Research . 7 . 2 . 143–150 . April 2000 . 10819331 . 10.1093/dnares/7.2.143 . free .

Notes and References

1. Web site: Entrez Gene: Fraser syndrome 1.
2. McGregor L, Makela V, Darling SM, Vrontou S, Chalepakis G, Roberts C, Smart N, Rutland P, Prescott N, Hopkins J, Bentley E, Shaw A, Roberts E, Mueller R, Jadeja S, Philip N, Nelson J, Francannet C, Perez-Aytes A, Megarbane A, Kerr B, Wainwright B, Woolf AS, Winter RM, Scambler PJ . 6 . Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein . Nature Genetics . 34 . 2 . 203–208 . June 2003 . 12766769 . 10.1038/ng1142 . 1018128 .
3. Wang V, Geybels MS, Jordahl KM, Gerke T, Hamid A, Penney KL, Markt SC, Freedman M, Pomerantz M, Lee GM, Rana H, Börnigen D, Rebbeck TR, Huttenhower C, Eeles RA, Stanford JL, Consortium P, Berndt SI, Claessens F, Sørensen KD, Park JY, Vega A, Usmani N, Mucci L, Sweeney CJ . 6 . A polymorphism in the promoter of FRAS1 is a candidate SNP associated with metastatic prostate cancer . The Prostate . 81 . 10 . 683–693 . July 2021 . 33956343 . 8491321 . 10.1002/pros.24148 .
4. Wang V, Geybels MS, Jordahl KM, Gerke T, Hamid A, Penney KL, Markt SC, Freedman M, Pomerantz M, Lee GM, Rana H, Börnigen D, Rebbeck TR, Huttenhower C, Eeles RA, Stanford JL, Consortium P, Berndt SI, Claessens F, Sørensen KD, Park JY, Vega A, Usmani N, Mucci L, Sweeney CJ . 6 . A polymorphism in the promoter of FRAS1 is a candidate SNP associated with metastatic prostate cancer . The Prostate . 81 . 10 . 683–693 . July 2021 . 33956343 . 8491321 . 10.1002/pros.24148 .
5. Web site: Fraser syndrome 1. May 17, 2010. February 23, 2010.